DEAFNESS--OPTIC ATROPHY SYNDROME(OMIM機械翻訳)
DENTIN DYSPLASIA, TYPE I(OMIM機械翻訳)
DENTIN DYSPLASIA, TYPE II(OMIM機械翻訳)
DENTINOGENESIS IMPERFECTA 1; DGI1(OMIM機械翻訳)
DERMAL RIDGES, NELSON SYNDROME(OMIM機械翻訳)
DERMATOPATHIA PIGMENTOSA RETICULARIS; DPR(OMIM機械翻訳)
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS(OMIM機械翻訳)
DUANE RETRACTION SYNDROME 1; DURS1(OMIM機械翻訳)
DUPUYTREN CONTRACTURE(OMIM機械翻訳)
KENNY-CAFFEY SYNDROME, TYPE 2(OMIM機械翻訳)
LERI-WEILL DYSCHONDROSTEOSIS; LWD(OMIM機械翻訳)
DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH(OMIM機械翻訳)
DYSPLASIA EPIPHYSEALIS HEMIMELICA WITH CHONDROMAS AND OSTEOCHONDROMAS(OMIM機械翻訳)
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION(OMIM機械翻訳)
ECTOPIA PUPILLAE(OMIM機械翻訳)
EHLERS-DANLOS SYNDROME, TYPE III(OMIM機械翻訳)
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT; EDS4(OMIM機械翻訳)
BECKWITH-WIEDEMANN SYNDROME; BWS(OMIM機械翻訳)
ENCEPHALOPATHY, RECURRENT, OF CHILDHOOD(OMIM機械翻訳)
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I; MEN1(OMIM機械翻訳)
CAMURATI-ENGELMANN DISEASE(OMIM機械翻訳)
EPENDYMOMA, FAMILIAL(OMIM機械翻訳)
EPIDERMOLYSIS BULLOSA HERPETIFORMIS, DOWLING-MEARA TYPE(OMIM機械翻訳)
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET(OMIM機械翻訳)
EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE; EBS2(OMIM機械翻訳)
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE(OMIM機械翻訳)
EPILEPSY, BENIGN OCCIPITAL; BOE(OMIM機械翻訳)
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1; EDM1(OMIM機械翻訳)
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA; MSSE(OMIM機械翻訳)
ERYTHROKERATODERMIA WITH ATAXIA(OMIM機械翻訳)
ERYTHROKERATODERMIA VARIABILIS; EKV(OMIM機械翻訳)
FEMORAL-FACIAL SYNDROME; FFS(OMIM機械翻訳)
BIRT-HOGG-DUBE SYNDROME; BHD(OMIM機械翻訳)
FIBROMATOSIS, GINGIVAL, WITH ABNORMAL FINGERS, FINGERNAILS, NOSE AND EARS, AND SPLENOMEGALY(OMIM機械翻訳)
FIBROMATOSIS, GINGIVAL, WITH PROGRESSIVE DEAFNESS(OMIM機械翻訳)
FIBULA AND ULNA, DUPLICATION OF, WITH ABSENCE OF TIBIA AND RADIUS(OMIM機械翻訳)
FIFTH DIGIT SYNDROME(OMIM機械翻訳)
FLOATING-HARBOR SYNDROME(OMIM機械翻訳)
FOCAL FACIAL DERMAL DYSPLASIA(OMIM機械翻訳)
FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME(OMIM機械翻訳)
4-@AMINOBUTYRATE AMINOTRANSFERASE; ABAT(OMIM機械翻訳)
GASTRIC LYMPHOMA, PRIMARY(OMIM機械翻訳)
GASTROCUTANEOUS SYNDROME(OMIM機械翻訳)
GASTRITIS, FAMILIAL GIANT HYPERTROPHIC(OMIM機械翻訳)
GENU VALGUM, ST. HELENA FAMILIAL(OMIM機械翻訳)
GEOGRAPHIC TONGUE AND FISSURED TONGUE(OMIM機械翻訳)
GERSTMANN-STRAUSSLER DISEASE; GSD(OMIM機械翻訳)
GIANT PIGMENTED HAIRY NEVUS; GPHN(OMIM機械翻訳)
GOITER, MULTINODULAR, CYSTIC RENAL DISEASE AND DIGITAL ANOMALIES(OMIM機械翻訳)
GRANT SYNDROME(OMIM機械翻訳)
GRAY PLATELET SYNDROME; GPS(OMIM機械翻訳)
HAIRY EARS(OMIM機械翻訳)
HAIRY ELBOWS(OMIM機械翻訳)
HAIRY NOSE TIP(OMIM機械翻訳)
HAIRY PALMS AND SOLES(OMIM機械翻訳)
HASHIMOTO STRUMA(OMIM機械翻訳)
HEMANGIOMAS, CAVERNOUS, OF FACE AND SUPRAUMBILICAL MIDLINE RAPHE(OMIM機械翻訳)
HEMIFACIAL ATROPHY, PROGRESSIVE; HFA(OMIM機械翻訳)
HEMIFACIAL MICROSOMIA WITH RADIAL DEFECTS(OMIM機械翻訳)
HETEROCHROMIA IRIDIS(OMIM機械翻訳)
HIRSUTISM--SKELETAL DYSPLASIA--MENTAL RETARDATION SYNDROME(OMIM機械翻訳)
PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT(OMIM機械翻訳)
HIDRADENITIS SUPPURATIVA, FAMILIAL(OMIM機械翻訳)
HOLT-ORAM SYNDROME; HOS(OMIM機械翻訳)
HUMEROSPINAL DYSOSTOSIS(OMIM機械翻訳)
HYALOIDEORETINAL DEGENERATION OF WAGNER(OMIM機械翻訳)
GILBERT SYNDROME(OMIM機械翻訳)
HYPERCHOLESTEROLEMIA, FAMILIAL(OMIM機械翻訳)
HYPERLIPOPROTEINEMIA, TYPE IV(OMIM機械翻訳)
HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS(OMIM機械翻訳)
HYPEROSTOSIS FRONTALIS INTERNA(OMIM機械翻訳)
HYPERSENSITIVITY PNEUMONITIS, FAMILIAL(OMIM機械翻訳)
HYPERTELORISM, TEEBI TYPE(OMIM機械翻訳)
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1(OMIM機械翻訳)
HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1(OMIM機械翻訳)
HYPOMELIA WITH MULLERIAN DUCT ANOMALIES(OMIM機械翻訳)
HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH(OMIM機械翻訳)
HYPOTENSION, ORTHOSTATIC(OMIM機械翻訳)
HYPOTRICHOSIS, MARIE UNNA TYPE(OMIM機械翻訳)
ICHTHYOSIS VULGARIS(OMIM機械翻訳)
ICHTHYOSIS--CHEEK--EYEBROW SYNDROME(OMIM機械翻訳)
ICHTHYOSIS, BULLOUS TYPE(OMIM機械翻訳)
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI(OMIM機械翻訳)
JOHNSON NEUROECTODERMAL SYNDROME(OMIM機械翻訳)
JACOBSEN SYNDROME; JBS(OMIM機械翻訳)
AASE-SMITH SYNDROME(OMIM機械翻訳)
ISCHIOPATELLAR DYSPLASIA(OMIM機械翻訳)
JOINT LAXITY, FAMILIAL(OMIM機械翻訳)
KALLIKREIN 1; KLK1(OMIM機械翻訳)
KABUKI SYNDROME(OMIM機械翻訳)
KALLMANN SYNDROME 2; KAL2(OMIM機械翻訳)
KAPOSI SARCOMA(OMIM機械翻訳)
KBG SYNDROME(OMIM機械翻訳)
KELOIDS(OMIM機械翻訳)
KERATITIS, HEREDITARY(OMIM機械翻訳)
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT(OMIM機械翻訳)
KERATOCONUS(OMIM機械翻訳)
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS(OMIM機械翻訳)
KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY(OMIM機械翻訳)
KERATOLYTIC WINTER ERYTHEMA(OMIM機械翻訳)
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